Primary ciliary dyskinesia

Détails

ID Serval
serval:BIB_02D76A3E6CFD
Type
Partie de livre
Sous-type
Chapitre: chapitre ou section
Collection
Publications
Institution
Titre
Primary ciliary dyskinesia
Titre du livre
Orphan Lung Diseases
Auteur⸱e⸱s
Lucas J.S.A., Walker W.T., Kuehni C.E., Lazor R.
Editeur
European Respiratory Society
Lieu d'édition
Plymouth
ISBN
978-1-84984-013-2
Statut éditorial
Publié
Date de publication
2011
Editeur⸱rice scientifique
Cordier J.F.
Volume
54
Série
European Respiratory Society Monograph
Numéro de chapitre
12
Pages
201-2017
Langue
anglais
Résumé
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease with an incidence estimated between 1:2,000 and 1:40,000. Ciliated epithelia line the airways, nasal and sinus cavities, Eustachian tube and fallopian tubes. Congenital abnormalities of ciliary structure and function impair mucociliary clearance. As a consequence, patients present with chronic sinopulmonary infections, recurrent glue ear and female subfertility. Similarities in the ultrastructure of respiratory cilia, nodal cilia and sperm result in patients with PCD also presenting with male infertility, abnormalities of left-right asymmetry (most commonly situs inversus totalis) and congenital heart disease. Early diagnosis is essential to ensure specialist management of the respiratory and otological complications of PCD. Diagnostic tests focus on analysis of ciliary function and electron microscopy structure. Analysis is technically difficult and labour intensive. It requires expertise for interpretation, restricting diagnosis to specialist centres. Management is currently based on the consensus of experts, and there is a pressing need for randomised clinical trials to inform treatment.
Création de la notice
20/03/2012 23:34
Dernière modification de la notice
20/08/2019 12:24
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